Limb Deformities, Congenital

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  Subject Areas on Research

  • A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. 
  • Amniotic band syndrome in fetal lambs. I: Fetoscopic release and morphometric outcome. 
  • Developmental anomalies of the skin. 
  • Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 
  • Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects. 
  • Pelger-Huet anomaly in an infant with multiple congenital anomalies. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • Retinoic acid receptor alpha function in vertebrate limb skeletogenesis: a modulator of chondrogenesis. 
  • Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. 
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  Keywords of People

  • Bellet, Jane Sanders, Professor of Dermatology, Dermatology
  • Hogan, Brigid L. M., George Barth Geller Distinguished Professor, Cell Biology